osteogenesis imperfecta type II (perinatal-lethal): long bone ICD-10: Q78.0
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Neugeborenes Mädchen. Autopsiepräparat
Röhrenknochen:
- Spongiosa rarefiziert, verschmälert;
Compacta verdünnt und aufgesplittert;
Verkalkungsstörung
- Pathologische Fraktur (Auftreibung)
mit überschiessender Kallusbildung und chondroider Metaplasie (chondroide Metaplasie)
- Teilweise fibrosiertes Knochenmark
New born girl (specimen from autopsy).
- A section through a long bone is shown.
- Marked thinning of a discontinuous corticalis and few and irregular trabeculae are observed. Bone lamellation is increased with individual lamellae
being thinner than normal (Compacta).
- In the middle portion marked swelling of the bone (pathological fracture, Fraktur) and formation
of fibrocartilaginous callus (chondroide Metaplasie), fibrosis of the bone marrow (fibrosiertes).
Clinical findings: Osteogenesis imperfecta type II is uniformly fatal in utero or during the perinatal period.
Multiple fractures are acquired while the fetus is still in the womb.